Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50624898C>G , CM000684.2:g.50624898C>G | GRCh38 |
| NC_000022.10:g.51063326C>G , CM000684.1:g.51063326C>G | GRCh37 |
| NC_000022.9:g.49410192C>G | NCBI36 |
| NG_009260.2:g.8282G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000216124.10:c.*247G>C MANE Select | ENSP00000216124.5:n.*247G>C | |
| ENST00000608497.1:c.180+465G>C | ||
| NM_000487.5:c.*247G>C | NP_000478.3:n.*247G>C | |
| NM_001085425.2:c.*247G>C | NP_001078894.2:n.*247G>C | |
| NM_001085426.2:c.*247G>C | NP_001078895.2:n.*247G>C | |
| NM_001085427.2:c.*247G>C | NP_001078896.2:n.*247G>C | |
| NM_001085428.2:c.*247G>C | NP_001078897.1:n.*247G>C | |
| NM_001362782.1:c.*247G>C | NP_001349711.1:n.*247G>C | |
| NM_000487.6:c.*247G>C MANE Select | NP_000478.3:n.*247G>C | |
| NM_001085425.3:c.*247G>C | NP_001078894.2:n.*247G>C | |
| NM_001085426.3:c.*247G>C | NP_001078895.2:n.*247G>C | |
| NM_001085427.3:c.*247G>C | NP_001078896.2:n.*247G>C | |
| NM_001085428.3:c.*247G>C | NP_001078897.1:n.*247G>C | |
| NM_001362782.2:c.*247G>C | NP_001349711.1:n.*247G>C |